V101I (p.Val101Ile) variant of VPS13C (Q709C8)
V101I (p.Val101Ile) in VPS13C (Q709C8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
V101I (p.Val101Ile) variant details
- p.Val101Ile
- gnomAD rs1040047782
- Missense
- Variant Prioritization Score for Impact Estimate 0.432
- REVEL 0.31
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.32
- MetaSVM -0.66
- CADD 24.10
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available